AC T09977
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ID T09977
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DT 01.12.2006 (created); kau.
DT 24.09.2012 (updated); yre.
CO Copyright (C), QIAGEN.
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FA TWIST
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SY h-twist; TWIST1; TWISTrelated protein.
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OS human, Homo sapiens
OC eukaryota; animalia; metazoa; chordata; vertebrata; tetrapoda; mammalia; eutheria; primates
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GE G006856 TWIST1; HGNC: TWIST1.
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CL C0010; bHLH.
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SZ 202 AA; 21.0 kDa (cDNA) (calc.).
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SQ MMQDVSSSPVSPADDSLSNSEEEPDRQQPPSGKRGGRKRRSSRRSAGGGAGPGGAAGGGV
SQ GGGDEPGSPAQGKRGKKSAGCGGGGGAGGGGGSSSGGGSPQSYEELQTQRVMANVRERQR
SQ TQSLNEAFAALRKIIPTLPSDKLSKIQTLKLAARYIDFLYQVLQSDELDSKMASCSYVAH
SQ ERLSYAFSVWRMEGAWSMSASH
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SC translated from EMBL #X91662
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FT 1 50 
necessary and sufficient for interaction with HOXA5 T01702 [6].
FT 107 160 
PS50888; HLH.
FT 109 160 
PF00010; Helix-loop-helix DNA-binding domain.
FT 114 165 
SM00353; finulus.
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IN T00204 E12; human, Homo sapiens.
IN T00433 ITF-2; human, Homo sapiens.
IN T09500 p53; Mammalia.
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MX M03582 V$TWIST_Q6.
MX M07435 V$TWIST_Q6_01.
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BS R28289.
BS R72935.
BS R69963.
BS R69964.
BS R69965.
BS R69966.
BS R72079.
BS R72089.
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DR TRANSPATH: MO000093774.
DR EMBL: AC003986;
DR EMBL: U80998;
DR EMBL: X91662;
DR EMBL: X99268;
DR EMBL: Y10871;
DR UniProtKB: Q15672;
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RN [1]; RE0017235.
RX PUBMED: 8995765.
RA Bourgeois P., Stoetzel C., Bolcato-Bellemin A. L., Mattei M. G., Perrin-Schmitt F.
RT The human H-twist gene is located at 7p21 and encodes a B-HLH protein that is 96% similar to its murine M-twist counterpart
RL Mamm. Genome 7:915-917 (1996).
RN [2]; RE0017236.
RX PUBMED: 8988166.
RA Howard T. D., Paznekas W. A., Green E. D., Chiang L. C., Ma N., Ortiz de Luna R. I., Garcia Delgado C., Gonzalez-Ramos M., Kline A. D., Jabs E. W.
RT Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome
RL Nat. Genet. 15:36-41 (1997).
RN [3]; RE0017237.
RX PUBMED: 9215678.
RA Krebs I., Weis I., Hudler M., Rommens J. M., Roth H., Scherer S. W., Tsui L. C., Fuchtbauer E. M., Grzeschik K. H., Tsuji K., Kunz J.
RT Translocation breakpoint maps 5 kb 3' from TWIST in a patient affected with Saethre-Chotzen syndrome
RL Hum. Mol. Genet. 6:1079-1086 (1997).
RN [4]; RE0017238.
RX PUBMED: 8988167.
RA el Ghouzzi V., Le Merrer M., Perrin-Schmitt F., Lajeunie E., Benit P., Renier D., Bourgeois P., Bolcato-Bellemin A. L., Munnich A., Bonaventure J.
RT Mutations of the TWIST gene in the Saethre-Chotzen syndrome
RL Nat. Genet. 15:42-46 (1997).
RN [5]; RE0035102.
RX PUBMED: 11948912.
RA Villavicencio E. H., Yoon J. W., Frank D. J., Fuchtbauer E. M., Walterhouse D. O., Iannaccone P. M.
RT Cooperative E-box regulation of human GLI1 by TWIST and USF.
RL Genesis 32:247-258 (2002).
RN [6]; RE0035184.
RX PUBMED: 15545268.
RA Stasinopoulos I. A., Mironchik Y., Raman A., Wildes F., Winnard P J. r., Raman V.
RT HOXA5-twist interaction alters p53 homeostasis in breast cancer cells.
RL J. Biol. Chem. 280:2294-2299 (2005).
RN [7]; RE0048930.
RX PUBMED: 10749989.
RA el Ghouzzi V., Legeai-Mallet L., Aresta S., Benoist C., Munnich A., De Gunzburg J., Bonaventure J.
RT Saethre-Chotzen mutations cause TWIST protein degradation or impaired nuclear location.
RL Hum. Mol. Genet. 9:813-819 (2000).
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